Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

Chiara Zanetta, Giulietta Riboldi, Monica Nizzardo, Chiara Simone, Irene Faravelli, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.

Original languageEnglish
Pages (from-to)187-196
Number of pages10
JournalJournal of Cellular and Molecular Medicine
Volume18
Issue number2
DOIs
Publication statusPublished - Feb 2014

Fingerprint

Spinal Muscular Atrophy
Molecular Biology
Stem Cells
Motor Neurons
Motor Neuron Disease
Premature Mortality
Infant Mortality
Paralysis
Genes
Therapeutics
Clinical Trials
Mutation
Proteins

Keywords

  • Antisense oligonucleotides
  • Gene therapy
  • Induced pluripotent stem cells
  • Molecular therapy
  • Morpholino
  • Spinal muscular atrophy
  • Stem-cell therapy

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Medicine

Cite this

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). / Zanetta, Chiara; Riboldi, Giulietta; Nizzardo, Monica; Simone, Chiara; Faravelli, Irene; Bresolin, Nereo; Comi, Giacomo P.; Corti, Stefania.

In: Journal of Cellular and Molecular Medicine, Vol. 18, No. 2, 02.2014, p. 187-196.

Research output: Contribution to journalArticle

@article{bc49b52c6f334555b68f94a2aa7657e2,
title = "Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)",
abstract = "Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.",
keywords = "Antisense oligonucleotides, Gene therapy, Induced pluripotent stem cells, Molecular therapy, Morpholino, Spinal muscular atrophy, Stem-cell therapy",
author = "Chiara Zanetta and Giulietta Riboldi and Monica Nizzardo and Chiara Simone and Irene Faravelli and Nereo Bresolin and Comi, {Giacomo P.} and Stefania Corti",
year = "2014",
month = "2",
doi = "10.1111/jcmm.12224",
language = "English",
volume = "18",
pages = "187--196",
journal = "Journal of Cellular and Molecular Medicine",
issn = "1582-1838",
publisher = "Wiley-Blackwell",
number = "2",

}

TY - JOUR

T1 - Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

AU - Zanetta, Chiara

AU - Riboldi, Giulietta

AU - Nizzardo, Monica

AU - Simone, Chiara

AU - Faravelli, Irene

AU - Bresolin, Nereo

AU - Comi, Giacomo P.

AU - Corti, Stefania

PY - 2014/2

Y1 - 2014/2

N2 - Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.

AB - Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. It is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The most striking component is the loss of alpha motor neurons in the ventral horn of the spinal cord, resulting in progressive paralysis and eventually premature death. There is no current treatment other than supportive care, although the past decade has seen a striking advancement in understanding of both SMA genetics and molecular mechanisms. A variety of disease modifying interventions are rapidly bridging the translational gap from the laboratory to clinical trials. In this review, we would like to outline the most interesting therapeutic strategies that are currently developing, which are represented by molecular, gene and stem cell-mediated approaches for the treatment of SMA.

KW - Antisense oligonucleotides

KW - Gene therapy

KW - Induced pluripotent stem cells

KW - Molecular therapy

KW - Morpholino

KW - Spinal muscular atrophy

KW - Stem-cell therapy

UR - http://www.scopus.com/inward/record.url?scp=84893677349&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84893677349&partnerID=8YFLogxK

U2 - 10.1111/jcmm.12224

DO - 10.1111/jcmm.12224

M3 - Article

C2 - 24400925

AN - SCOPUS:84893677349

VL - 18

SP - 187

EP - 196

JO - Journal of Cellular and Molecular Medicine

JF - Journal of Cellular and Molecular Medicine

SN - 1582-1838

IS - 2

ER -